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Mild hemophilia B

MedGen UID:: 1826003
•Concept ID:: C5679574
•: Disease or Syndrome

Synonyms:	Mild congenital F9 deficiency; Mild congenital factor IX deficiency; mild factor IX deficiency; mild haemophilia type B; mild hemophilia B; mild hemophilia type B; Mild hereditary factor IX deficiency disease
SNOMED CT:	Mild hereditary factor IX deficiency disease (1336091009); Mild hemophilia B (1336091009)
Modes of inheritance:	X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record X-linked recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0015717
Orphanet:	ORPHA169799

Definition

A factor activity level of >5 percent of normal and <40 percent of normal. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMild hemophilia B

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormality of coagulation
    - Abnormality of the coagulation cascade
      - Coagulation protein disease
        Hereditary factor IX deficiency disease
        Mild hemophilia B

Professional guidelines

PubMed

Management and outcomes of mild hemophiliacs and hemophilia carriers during pregnancy and peripartum period: a hemophilia treatment center experience in the United States.

Lim HI, DeSancho MT
J Matern Fetal Neonatal Med 2022 Dec;35(25):9759-9764. Epub 2022 Apr 12 doi: 10.1080/14767058.2022.2051699. PMID: 35414333

Perioperative Management of Mild Hemophilia B During and After Coronary Artery Bypass Grafting: Challenges and Solutions.

Fernando RJ, Farmer BE, Augoustides JG, Gardner JC, Johnson SD, Ha B, Friess JO, Luedi MM, Erdoes G, Miller PJ, Ripat C, Fabbro M
J Cardiothorac Vasc Anesth 2019 Feb;33(2):549-555. Epub 2018 Jun 20 doi: 10.1053/j.jvca.2018.06.005. PMID: 30177475

Comprehensive treatment of periodontitis in patients with von Willebrand disease.

Nickles K, Wohlfeil M, Alesci S, Miesbach W, Eickholz P
J Periodontol 2010 Oct;81(10):1432-40. doi: 10.1902/jop.2010.100076. PMID: 20594049

See all (3)

Recent clinical studies

Etiology

Recurrent bleeding after rubber band ligation diagnosed as mild hemophilia B: a case report and literature review.

Jiang X, Xu M, Ding Y, Cao Y, Pan Y
BMC Surg 2022 Apr 1;22(1):124. doi: 10.1186/s12893-022-01553-8. PMID: 35365158 Free PMC Article

Bilateral subthalmic nucleus deep brain stimulation with microelectrode recordings in the setting of mild inherited hemophilia B: a case report.

Yacoub A, Mohyuddin GR, Nazzaro JM
Int J Neurosci 2019 Sep;129(9):933-935. Epub 2019 Mar 25 doi: 10.1080/00207454.2019.1586685. PMID: 30795708

Major differences in bleeding symptoms between factor VII deficiency and hemophilia B.

Bernardi F, Dolce A, Pinotti M, Shapiro AD, Santagostino E, Peyvandi F, Batorova A, Lapecorella M, Schved JF, Ingerslev J, Mariani G; International Factor VII Deficiency Study Group
J Thromb Haemost 2009 May;7(5):774-9. Epub 2009 Feb 24 doi: 10.1111/j.1538-7836.2009.03329.x. PMID: 19245420

A common G10430A mutation (Gly 60 Ser) in the factor IX gene describes the presence of moderate and mild hemophilia B in the majority of the Gujarati population.

Quadros L, Ghosh K, Shetty S
Ann Hematol 2007 May;86(5):377-9. Epub 2007 Feb 17 doi: 10.1007/s00277-007-0250-5. PMID: 17308903

Molecular genotyping of the Italian cohort of patients with hemophilia B.

Belvini D, Salviato R, Radossi P, Pierobon F, Mori P, Castaldo G, Tagariello G; AICE HB Study Group
Haematologica 2005 May;90(5):635-42. PMID: 15921378

See all (7)

Diagnosis

Clinical Implications of Discrepancy between One-Stage Clotting and Chromogenic Factor IX Activity in Hemophilia B.

Schmidt DE, Truedsson Å, Strålfors A, Hojbjerg JA, Soutari N, Holmström M, Ranta S, Letelier A, Bowyer A, Ljung R, Antovic J, Bruzelius M
Thromb Haemost 2024 Jan;124(1):32-39. Epub 2023 Jul 26 doi: 10.1055/a-2142-0262. PMID: 37494968

Management and outcomes of mild hemophiliacs and hemophilia carriers during pregnancy and peripartum period: a hemophilia treatment center experience in the United States.

Lim HI, DeSancho MT
J Matern Fetal Neonatal Med 2022 Dec;35(25):9759-9764. Epub 2022 Apr 12 doi: 10.1080/14767058.2022.2051699. PMID: 35414333

Recurrent bleeding after rubber band ligation diagnosed as mild hemophilia B: a case report and literature review.

Jiang X, Xu M, Ding Y, Cao Y, Pan Y
BMC Surg 2022 Apr 1;22(1):124. doi: 10.1186/s12893-022-01553-8. PMID: 35365158 Free PMC Article

Normal activated partial thromboplastin time in Chinese patients with mild hemophilia B.

Wang X, Tang N, Shen N, Zhu Y, Lu Y, Gao L
Hematology 2020 Dec;25(1):484-488. doi: 10.1080/16078454.2020.1853403. PMID: 33295842

A diagnostic challenge: mild hemophilia B with normal activated partial thromboplastin time.

Park CH, Seo JY, Kim HJ, Jang JH, Kim SH
Blood Coagul Fibrinolysis 2010 Jun;21(4):368-71. doi: 10.1097/MBC.0b013e3283367946. PMID: 20305539

See all (12)

Therapy

A mild hemophilia B case with postoperative bleeds following thromboprophylaxis.

Watakabe M, Shida Y, Ogiwara K, Inagaki Y, Nogami K
Pediatr Int 2022 Jan;64(1):e15365. doi: 10.1111/ped.15365. PMID: 36151915

Off-pump technique and replacement therapy for coronary artery bypass surgery in a patient with hemophilia B.

Fernández-Caballero M, Martinez MF, Oristrell G, Palmer N, Santamaría A
J Thromb Thrombolysis 2019 Aug;48(2):299-302. doi: 10.1007/s11239-019-01888-9. PMID: 31152365

Perioperative Management of Mild Hemophilia B During and After Coronary Artery Bypass Grafting: Challenges and Solutions.

Comprehensive treatment of periodontitis in patients with von Willebrand disease.

Nickles K, Wohlfeil M, Alesci S, Miesbach W, Eickholz P
J Periodontol 2010 Oct;81(10):1432-40. doi: 10.1902/jop.2010.100076. PMID: 20594049

Recurrent bleeding following traumatic hyphema due to mild hemophilia B (Christmas disease).

Wilker SC, Singh A, Ellis FJ
J AAPOS 2007 Dec;11(6):622-3. Epub 2007 Aug 27 doi: 10.1016/j.jaapos.2007.06.009. PMID: 17720569

See all (8)

Prognosis

Bilateral subthalmic nucleus deep brain stimulation with microelectrode recordings in the setting of mild inherited hemophilia B: a case report.

Yacoub A, Mohyuddin GR, Nazzaro JM
Int J Neurosci 2019 Sep;129(9):933-935. Epub 2019 Mar 25 doi: 10.1080/00207454.2019.1586685. PMID: 30795708

Comprehensive treatment of periodontitis in patients with von Willebrand disease.

Nickles K, Wohlfeil M, Alesci S, Miesbach W, Eickholz P
J Periodontol 2010 Oct;81(10):1432-40. doi: 10.1902/jop.2010.100076. PMID: 20594049

Molecular genotyping of the Italian cohort of patients with hemophilia B.

Belvini D, Salviato R, Radossi P, Pierobon F, Mori P, Castaldo G, Tagariello G; AICE HB Study Group
Haematologica 2005 May;90(5):635-42. PMID: 15921378

Factor IX Denver, ASN 346-->ASP mutation resulting in a dysfunctional protein with defective factor VIIIa interaction.

Lefkowitz JB, Nuss R, Haver T, Jacobson L, Thompson AR, Manco-Johnson M
Thromb Haemost 2001 Sep;86(3):862-70. PMID: 11583320

Three distinct point mutations in the factor IX gene of three Japanese CRM+ hemophilia B patients (factor IX BMNagoya 2, factor IX Nagoya 3 and 4).

Hamaguchi M, Matsushita T, Tanimoto M, Takahashi I, Yamamoto K, Sugiura I, Takamatsu J, Ogata K, Kamiya T, Saito H
Thromb Haemost 1991 May 6;65(5):514-20. PMID: 1871712

See all (5)

Clinical prediction guides

Clinical Implications of Discrepancy between One-Stage Clotting and Chromogenic Factor IX Activity in Hemophilia B.

Employing a gain-of-function factor IX variant R338L to advance the efficacy and safety of hemophilia B human gene therapy: preclinical evaluation supporting an ongoing adeno-associated virus clinical trial.

Monahan PE, Sun J, Gui T, Hu G, Hannah WB, Wichlan DG, Wu Z, Grieger JC, Li C, Suwanmanee T, Stafford DW, Booth CJ, Samulski JJ, Kafri T, McPhee SW, Samulski RJ
Hum Gene Ther 2015 Feb;26(2):69-81. Epub 2015 Jan 21 doi: 10.1089/hum.2014.106. PMID: 25419787 Free PMC Article

Comprehensive treatment of periodontitis in patients with von Willebrand disease.

Nickles K, Wohlfeil M, Alesci S, Miesbach W, Eickholz P
J Periodontol 2010 Oct;81(10):1432-40. doi: 10.1902/jop.2010.100076. PMID: 20594049

Major differences in bleeding symptoms between factor VII deficiency and hemophilia B.

Factor IX Denver, ASN 346-->ASP mutation resulting in a dysfunctional protein with defective factor VIIIa interaction.

Lefkowitz JB, Nuss R, Haver T, Jacobson L, Thompson AR, Manco-Johnson M
Thromb Haemost 2001 Sep;86(3):862-70. PMID: 11583320

See all (9)

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Mild hemophilia B

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Table of contents

Genetic Testing Registry

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